Mild craniosynostosis with 1p36.3 trisomy and 1p36.3 deletion syndrome caused by familial translocation t(Y;1).

Abstract

We report on a 20-year-old man and a 16-year-old woman with a chromosomal imbalance derived from a balanced translocation, t(Y;1)(q12;p36.3) of the father. The man had a partial trisomy for 1p36.3-pter [46,X,der(Y)t(Y:1)(q12;p36.3)] and mild craniosynostosis of metopic and sagittal sutures as well as a borderline mental impairment, while the woman with a deletion for 1p36.3-pter [46,XX,der(1)t(Y;1)(q12;p36.3)] showed dysmorphic face with large anterior fontanel and severe developmental delay. Fluorescence in situ hybridization (FISH) showed that his trisomy spanned the 5.3-Mb region from 1p telomere harboring the critical region for craniosynostosis. To our knowledge, the man is the first case of a pure type of simple 1p36.3 trisomy as the effect of heterochromatic Yq12-qter deletion likely does not affect phenotype.

• Authors: Yoko Hiraki, Hiroko Fujita, Shunji Yamamori, Hirofumi Ohashi, Maki Eguchi, Naoki Harada, Takeshi Mizuguchi, Naomichi Matsumoto
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 140 Issue 16 Pg. 1773-7 (Aug 15 2006) ISSN: 1552-4825 [Print] United States
• PMID: 16835918 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Adult
• Chromosome Deletion
• Chromosomes, Human, Pair 1
• Chromosomes, Human, Y
• Craniosynostoses (genetics, pathology)
• Female
• Humans
• Karyotyping
• Male
• Monosomy
• Physical Chromosome Mapping
• Translocation, Genetic
• Trisomy